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dbVar

Database of genomic structural variation

nsv4455758

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:51,193

Description:GRCh37/hg19 5q35.3(chr5:179180782-179231973)x3 AND not provided

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 229 SVs from 50 studies. See in: genome view

Remapped(Score: Good):179,753,781-179,804,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455758	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	179,753,781	179,804,973
nsv4455758	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	519,377	570,546
nsv4455758	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	179,180,782	179,231,973

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773596	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849942.2, VCV000689251.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773596	Remapped	Good	NW_016107298.1:g.( ?_519377)_(570546_ ?)dup	GRCh38.p12	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	519,377	570,546
nssv15773596	Remapped	Good	NC_000005.10:g.(?_ 179753781)_(179804 973_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	179,753,781	179,804,973
nssv15773596	Submitted genomic		NC_000005.9:g.(?_1 79180782)_(1792319 73_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	179,180,782	179,231,973

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773596	GRCh37: NC_000005.9:g.(?_179180782)_(179231973_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000849942.2, VCV000689251.2	3

No genotype data were submitted for this variant

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